Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000241093 | SCV001592166 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro357Hisfs*56) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial focal epilepsy with variable foci (PMID: 27173016). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 254361). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000241093 | SCV000299386 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2016-09-21 | no assertion criteria provided | literature only |